Primary hyperoxaluria type 1 (Q40060): Difference between revisions
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A hiperoxalúria tipo 1 é devido a um defeito numa enzima hepática peroxissomal alanina glioxilato aminotransferase. A forma infantil é caracterizada por insuficiência renal crônica por deposição excessiva de oxalato. Em outros pacientes apresenta-se como urolitíase recidivante , que se deteriora com infecções, hematúria, cólicas nefréticas ou comprometimento renal agudo por obstrução completa. Doença renal terminal ocorre antes dos 15 anos de idade em metade dos casos e acabam levando a deposição de oxalato em outros tecidos, causando defeitos de condução cardíaca, hipertensão, gangrena distal e redução da mobilidade e dor articular. | |||
| description / en | description / en | ||
Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain. | |||
Revision as of 05:43, 13 August 2026
Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C51.20 |
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| English | Primary hyperoxaluria type 1 |
Primary hyperoxaluria type 1 is a rare metabolic disorder due to a defect of the peroxysomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). The infantile form is characterised by chronic renal failure due to massive oxalate deposition. In other patients, urolithiasis develops with infections, haematuria, renal colic or acute renal failure due to complete obstruction. End-stage renal failure occurs before 15 years of age in half the cases and the resulting increase of circulating oxalate leads to its deposition in tissues causing cardiac conduction defects, hypertension, distal gangrene, and reduced joint mobility and pain. |
